CHARLOTTE, N.C. — A Charlotte mother is on a mission to save her 2-year-old daughter's life.
Diana Roetting's toddler Rosie has an extremely rare genetic disease called GMPPA-CDG. It affects almost every part of her body – from neurological damage to the inability to eat.
However, Roetting said a cure is possible.
Roetting and her husband first noticed Rosie's medical issues when she was about six weeks old. After seeing specialists and running tests, she was diagnosed with GMPPA-CDG about eight months later.
GMPPA-CDG is an extremely rare disease, which causes significant neurological damage, an inability to swallow, and cognitive impairment.
"We were just devastated," Roetting said.
A medical report on Rosie in the National Library of Medicine says there are less than 25 documented cases of GMPPA in the world.
"We really don’t know the life expectancy of GMPPA because there are so few cases out there," Roetting said. "So, that is something that we struggle with."
After speaking with researchers and doctors internationally, Diana has hope. "They said, actually, believe it or not, a cure is possible."
According to Roetting, existing gene therapy can help Rosie and people living with GMPPA. However, researchers told her the treatment would cost $4 million.
"I've actually found an adult in Finland with GMPPA," Roetting added. "He's in his early 20s and he has a lot of medical issues but, you know, that also helps drive us."
That’s why she created a nonprofit called Bloom for a Cure -- to raise money and awareness for treatment of the rare disease.
"We’re fighting for our daughter’s life," said Roetting.
They’ve raised $315,000 so far and have a fundraising event on Nov. 30 at the Comedy Zone in Charlotte. Bloom for a Cure is selling tickets to the comedy show to raise money for gene therapy.
Contact Julia Kauffman at jkauffman@wcnc.com and follow her on Facebook, X and Instagram.